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15/02/2024 Thirty-year of genetic counselling education in Europe: a growing professional area
Paneque, M, O'Shea, R, Narravula, A, Siglen, E, Ciuca, A, Abuli, A, Serra-Juhé, C. Thirty-year of genetic counselling education in Europe: a growing professional area. EUROPEAN JOURNAL OF HUMAN GENETICS. 2024; DOI:10.1038/s41431-024-01552-8. PMID:38355960. IF:4.600(Q1/2D).
01/01/2024 Mutations in CPLANE2 are responsible of a new form of orofaciodigital syndrome
Palafoll, IV, Pérez, DV, Bruel, AL, Steichen, E, Codina, M, Martínez-Gil, N, Cusco, I, Thauvin-Robinet, C, Tizzano, E. Mutations in CPLANE2 are responsible of a new form of orofaciodigital syndrome. EUROPEAN JOURNAL OF HUMAN GENETICS. 2024; 32DOI:. PMID:. IF:4.600(Q1/2D).
01/01/2024 Five new patients with TAOK related disorders: relevance of TAOK2 gene in neurodevelopment?
Lasa-Aranzasti, A, Palafoll, IV, Gonzalez, AMC, Fernandez, P, Cuscó, I, Trujillano, L, Campos, B, Codina, M, Leno, J, García-Arumi, E, Tizzano, E. Five new patients with TAOK related disorders: relevance of TAOK2 gene in neurodevelopment?. EUROPEAN JOURNAL OF HUMAN GENETICS. 2024; 32DOI:. PMID:. IF:4.600(Q1/2D).
01/06/2023 Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples
Abuli, A, Costa-Roger, M, Codina-Sola, M, Valenzuela, I, Leno-Colorado, J, Rovira-Moreno, E, Cueto-Gonzalez, A, Fernandez-Alvarez, P, Garcia-Arumi, E, Cusco, I, Tizzano, EF. Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples. JOURNAL OF MEDICAL GENETICS. 2023; 60(6)DOI:10.1136/jmg-2022-108607. PMID:36600615. IF:3.600(Q2/3D).
01/06/2023 Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events
Segarra-Casas, A, Dominguez-Gonzalez, C, Hernandez-Lain, A, Sanchez-Calvin, MT, Camacho, A, Rivas, E, Campo-Barasoain, A, Madruga, M, Ortez, C, Natera-de Benito, D, Nascimento, A, Codina, A, Rodriguez, MJ, Gallano, P, Gonzalez-Quereda, L. Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events. JOURNAL OF MEDICAL GENETICS. 2023; 60(6)DOI:10.1136/jmg-2022-108828. PMID:36535754. IF:3.600(Q2/3D).
01/05/2023 Allelic Frequency of DPYD Genetic Variants in Patients With Cancer in Spain: The PhotoDPYD Study
Miarons, M, Gordon, AM, Riera, P, Nicolas, FG. Allelic Frequency of DPYD Genetic Variants in Patients With Cancer in Spain: The PhotoDPYD Study. ONCOLOGIST. 2023; 28(5)DOI:10.1093/oncolo/oyad077. PMID:37014829. IF:4.800(Q1/3D).
12/01/2023 263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May 2022
Sarkozy A., Bourke J.P., Ferlini A., Barthélémy I., Cripe L.H., Reuben E., Evangelista T., Ferlini A., Florian A., Gribnau J., Gonzalez-Quereda L., Guglieri M., Niks E., Phadke R., Politano L., Quinlivan R., Vissing J., Voermans N., Vroom E., Pietrusz A., Fortunato F., Houwen S.. 263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May 2022. NEUROMUSCULAR DISORDERS. 2023; 33(3)DOI:10.1016/j.nmd.2023.01.003. PMID:36804616. IF:2.700(Q2/4D).
01/01/2023 An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history
Codina-Sola, M, Trujillano, L, Abuli, A, Rovira-Moreno, E, Munoz-Cabello, P, Campos, B, Fernandez-Alvarez, P, Palau, D, Carrasco, E, Valenzuela, I, Cueto-Gonzalez, AM, Lasa-Aranzasti, A, Limeres, J, Leno-Colorado, J, Costa-Roger, M, Moles-Fernandez, A, Balmana, J, Diez, O, Cusco, I, Garcia-Arumi, E, Tizzano, EF. An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history. EUROPEAN JOURNAL OF HUMAN GENETICS. 2023; 31(2)DOI:10.1038/s41431-022-01240-5. PMID:36446894. IF:3.700(Q2/3D).
01/01/2023 An European overview of genetic counselling supervision provision
Paneque M., Guimarães L., Bengoa J., Pasalodos S., Cordier C., Esteban I., Lemos C., Moldovan R., Serra-Juhé C.. An European overview of genetic counselling supervision provision. European Journal of Medical Genetics. 2023; 66(4)DOI:10.1016/j.ejmg.2023.104710. PMID:36731744. IF:1.600(Q4/8D).
01/01/2023 A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1
Rodríguez Cruz P.M., Ravenscroft G., Natera D., Carr A., Manzur A., Liu W.W., Vella N.R., Jericó I., Gonzalez-Quereda L., Gallano P., Montalto S.A., Davis M.R., Lamont P.J., Laing N.G., Bourque P., Nascimento A., Muntoni F., Polavarapu K., Lochmüller H., Palace J., Beeson D.. A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1. NEUROMUSCULAR DISORDERS. 2023; 33(2)DOI:10.1016/j.nmd.2022.12.011. PMID:36634413. IF:2.700(Q2/4D).
31/08/2022 On the necessity of recognizing so-called Core professional groups within the genetic healthcare in Europe (vol 34, pg 81, 2022)
Paneque, M, Juhe, CS, Melegh, B, Carreira, I, Moog, U, Liehr, T. On the necessity of recognizing so-called Core professional groups within the genetic healthcare in Europe (vol 34, pg 81, 2022). Medizinische Genetik. 2022; 34(2)DOI:10.1515/medgen-2022-2122. PMID:. IF:1.100(Q4/10D).
01/08/2022 A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome
Lucia-Campos, C, Valenzuela, I, Latorre-Pellicer, A, Ros-Pardo, D, Gil-Salvador, M, Arnedo, M, Puisac, B, Castells, N, Plaja, A, Tenes, A, Cusco, I, Trujillano, L, Ramos, FJ, Tizzano, EF, Gomez-Puertas, P, Pie, J. A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome. Genes. 2022; 13(8)DOI:10.3390/genes13081413. PMID:36011323. IF:3.500(Q2/4D).
01/01/2022 Eficacia y seguridad de dosis altas de irinotecán en pacientes con cáncer colorrectal metastásico tratados con el esquema FOLFIRI en función del genotipo de UGT1A1: Revisión sistemática
Miarons M., Riera P., García-Gil S., Gutiérrez-Nicolás F.. Eficacia y seguridad de dosis altas de irinotecán en pacientes con cáncer colorrectal metastásico tratados con el esquema FOLFIRI en función del genotipo de UGT1A1: Revisión sistemática. Farmacia Hospitalaria. 2022; 46(4)DOI:10.7399/fh.11736. PMID:36183220. IF:(Q/D).
31/07/2025 Unveiling the Spectrum: Clinical and Molecular Insights from a Spanish Pediatric Cohort with Hypermobility Disorders and Ehlers-Danlos Syndrome
Felipe, DF, Casas-Alba, D, Sadok, SH, Fernández, MT, Vega-Hanna, L, Plaza, L, Villa, AV, Armstrong, J, Guillén-Navarro, E, Martínez-Monseny, AF. Unveiling the Spectrum: Clinical and Molecular Insights from a Spanish Pediatric Cohort with Hypermobility Disorders and Ehlers-Danlos Syndrome. Genes. 2025; 16(8)DOI:10.3390/genes16080925. PMID:40869974. IF:2.800(Q2/5D).
01/10/2024 An integrated transcriptomics and genomics approach to detect an X/autosome translocation in a female with Duchenne muscular dystrophy
Segarra-Casas, A, Yépez, V, Demidov, G, Laurie, S, Esteve, A, Gagneur, J, Parkhurst, Y, Muni-Lofra, R, Harris, E, Marini-Bettolo, C, Straub, V, Töpf, A. An integrated transcriptomics and genomics approach to detect an X/autosome translocation in a female with Duchenne muscular dystrophy. NEUROMUSCULAR DISORDERS. 2024; 43DOI:. PMID:. IF:2.800(Q2/5D).
01/10/2024 Genetic mosaicism, an underestimated event in genetically unsolved neuromuscular patients: study of two families
Estévez-Arias, B, Segarra-Casas, A, Ortez, C, Matalonga, L, Carrera-García, L, Expósito-Escudero, J, Jou, C, Codina, A, Jiménez-Mallebrera, C, Martorell, L, Lochmüller, H, Töpf, A, Beltran, S, Hoenicka, J, Palau, F, Martí, I, Gallano, P, Nascimento, A, Natera-de Benito, D, González-Quereda, L. Genetic mosaicism, an underestimated event in genetically unsolved neuromuscular patients: study of two families. NEUROMUSCULAR DISORDERS. 2024; 43DOI:. PMID:. IF:2.800(Q2/5D).
01/10/2024 Familial case of Bethlem myopathy caused by an ALU insertion in COL6A2
Luce, L, Demidov, G, Duff, J, McFarlane, A, Segarra-Casas, A, Laurie, S, de Visser, M, van der Kooi, A, Straub, V, Töpf, A. Familial case of Bethlem myopathy caused by an ALU insertion in COL6A2. NEUROMUSCULAR DISORDERS. 2024; 43DOI:. PMID:. IF:2.800(Q2/5D).
01/10/2024 Monoallelic DAG1 truncating variants in patients with hyperCKemia
Segarra-Casas, A, Trainor, C, Polavarapu, K, Díaz-Manera, J, Gonzalez-Quereda, L, Kirschner, J, de Munain, AL, Nascimento, A, Roos, A, Dowling, J, Muntoni, F, Töpf, A, Straub, V. Monoallelic DAG1 truncating variants in patients with hyperCKemia. NEUROMUSCULAR DISORDERS. 2024; 43DOI:10.1016/j.nmd.2024.07.257. PMID:. IF:2.800(Q2/5D).
01/04/2022 LDL Cholesterol Reduction Variability with Different Types and Doses of Statins in Monotherapy or Combined with Ezetimibe. Results from the Spanish Arteriosclerosis Society Dyslipidaemia Registry
Climent, E, Bea, AM, Benaiges, D, Brea-Hernando, A, Pinto, X, Suarez-Tembra, M, Perea, V, Plana, N, Blanco-Vaca, F, Pedro-Botet, J. LDL Cholesterol Reduction Variability with Different Types and Doses of Statins in Monotherapy or Combined with Ezetimibe. Results from the Spanish Arteriosclerosis Society Dyslipidaemia Registry. CARDIOVASCULAR DRUGS AND THERAPY. 2022; 36(2)DOI:10.1007/s10557-020-07137-z. PMID:33555511. IF:3.400(Q2/5D).
01/10/2021 Malondialdehyde-modified HDL particles elicit a specific IgG response in abdominal aortic aneurysm
Rodriguez-Carrio, J, Cerro-Pardo, I, Lindholt, JS, Bonzon-Kulichenko, E, Martinez-Lopez, D, Roldan-Montero, R, Escola-Gil, JC, Michel, JB, Blanco-Colio, LM, Vazquez, J, Suraez, A, Martin-Ventura, JL. Malondialdehyde-modified HDL particles elicit a specific IgG response in abdominal aortic aneurysm. FREE RADICAL BIOLOGY AND MEDICINE. 2021; 174DOI:10.1016/j.freeradbiomed.2021.08.004. PMID:34364980. IF:8.101(Q1/2D).